TY  - CHAP
A1  - Velázquez-Pérez, Luis
A1  - Rodríguez-Labrada, Roberto
A1  - Freund, Hans-Joachim
A1  - Auburger, Georg
A2  - Gazulla, José
T1  - Spinocerebellar Ataxia Type 2
T2  - Spinocerebellar Ataxia
N2  - 1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections. The degenerative process may additionally involves the ponto- medullar systems, pyramidal tracts, basal ganglia, cerebral cortex, peripheral nerves (ADCA I) and the retina (ADCA II), or can be limited to the cerebellum (ADCA III) (Harding et al., 1993). The most common of these dominantly inherited autosomal ataxias, ADCA I, includes many Spinocerebellar Ataxias (SCA) subtypes, some of which are caused by pathological CAG trinucleotide repeat expansion in the coding region on the mutated gene. Such is the case for SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA17 and Dentatorubral-pallidoluysian atrophy (DRPLA) (Matilla et al., 2006). Among the almost 30 SCAs, the variant SCA2 is the second most prevalent subtype worldwide, only surpassed by SCA3 (Schöls et al., 2004; Matilla et al., 2006; Auburger, 2011)...
Y1  - 2012
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/31709
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-317091
SN  - 978-953-51-0542-8
N1  - Licensed under a Creative Commons Attribution 3.0 Unported License http://creativecommons.org/licenses/by/3.0/
SP  - 77
EP  - 102
PB  - InTech
CY  - [Erscheinungsort nicht ermittelbar]
ER  -